Hanieh Yaghootkar

Scaling genetic discovery for organ volumes using machine learning-assisted imputation and bias-corrected GWAS

This paper uses machine learning to impute MRI-derived organ volumes and applies bias-corrected GWAS to identify genetic loci associated with these traits across 450,000 individuals.

Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight

The paper examines the effect of fetal genetic predispositions to metabolically favourable adult adiposity and BMI on birth weight and other anthropometric traits, finding stronger associations with birth weight for the adiposity alleles.

Higher maternal adiposity reduces offspring birth weight if associated with a metabolically favourable profile

This study uses Mendelian Randomisation to show that maternal metabolically favourable adiposity is associated with lower offspring birth weight compared to general adiposity indexed by BMI.

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

Machine Learning based histology phenotyping to investigate epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

The paper develops a deep learning method for adipocyte phenotyping and finds adipocyte area correlates with BMI but no genome-wide significant genetic associations.

Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

Genetic studies of accelerometer-based sleep measures in 85,670 individuals yield new insights into human sleep behaviour

This study identifies 47 genetic associations with sleep traits using accelerometer data from 85,670 individuals, including novel variants for sleep quality and duration.

Genome-wide association analyses of chronotype in 697,828 individuals provides new insights into circadian rhythms in humans and links to disease

This study identifies 351 new genetic loci associated with chronotype using data from 697,828 individuals and links them to circadian biology and disease.

Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry

Meta-analysis of waist-to-hip ratio adjusted for BMI in 694,649 European-ancestry individuals identifies 463 signals in 346 loci, roughly one-third sexually dimorphic and mostly stronger in women.

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.

Novel susceptibility loci and genetic regulation mechanisms for type 2 diabetes

This study identifies 139 common and 4 rare genetic variants associated with type 2 diabetes through GWAS and integrates gene expression and epigenomic data to highlight potential functional genes and regulatory mechanisms.

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

The paper identifies gene targets for brain-related traits using transcriptomic and methylomic data from blood, finding strong correlations between genetic effects in brain and blood tissues.

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

A common allele in FGF21 associated with preference for sugar consumption lowers body fat in the lower body and increases blood pressure

A common FGF21 allele is associated with lower body fat in the lower body, higher blood pressure, and increased carbohydrate intake in a large human cohort.

Red Blood Cell Distribution Width: genetic evidence for aging pathways in 116,666 volunteers

This study identifies genetic variants associated with red blood cell distribution width (RDW) in 166,666 UK Biobank volunteers, linking RDW to aging-related pathways and health outcomes.

Quantifying the extent to which index event biases influence large genetic association studies

This study quantifies index event bias in large genetic association studies and finds it can explain some associations between disease risk alleles and BMI.

Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes respectively

The paper identifies recessive genetic effects at FTO and CDKAL1 loci for obesity and type 2 diabetes using dominance deviation models in large cohorts.

Genome-wide association analyses in >119,000 individuals identifies thirteen morningness and two sleep duration loci

HUMAN LONGEVITY IS INFLUENCED BY MANY GENETIC VARIANTS: EVIDENCE FROM 75,000 UK BIOBANK PARTICIPANTS

This study identifies genetic variants associated with parental longevity using GWAS on 75,000 UK Biobank participants, finding multiple protective factors linked to longer lifespan.

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause, and impact reproductive health: a UK Biobank study

This study identifies a genetic variant lowering FSH levels that is associated with longer menstrual cycles, later menopause, and reduced endometriosis risk, but not with PCOS or male infertility.

Cell specific eQTL analysis without sorting cells

The paper introduces a method for cell-specific eQTL analysis without cell sorting, showing that Crohn's disease-associated SNPs mainly affect neutrophil gene expression in whole blood data.